功能： disease:Defects in KRT12 are a cause of juvenile epithelial corneal dystrophy of Meesmann (MCD) [MIM:122100]. MCD is an autosomal dominant disease that causes fragility of the anterior corneal epithelium. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts.,function:May play a unique role in maintaining the normal corneal epithelial function. Together with KRT3, essential for the maintenance of corneal epithelium integrity.,miscellaneous:There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).,online information:Keratin-12 entry,similarity:Belongs to the intermediate filament family.,subunit:Heterotetramer of two type I and two type II keratins. Keratin-3 associates with keratin-12.,tissue specificity:Cornea specific.,
功能： disease:Defects in KRT12 are a cause of juvenile epithelial corneal dystrophy of Meesmann (MCD) [MIM:122100]. MCD is an autosomal dominant disease that causes fragility of the anterior corneal epithelium. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts.,function:May play a unique role in maintaining the normal corneal epithelial function. Together with KRT3, essential for the maintenance of corneal epithelium integrity.,miscellaneous:There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).,online information:Keratin-12 entry,similarity:Belongs to the intermediate filament family.,subunit:Heterotetramer of two type I and two type II keratins. Keratin-3 associates with keratin-12.,tissue specificity:Cornea specific.,
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